|   I-cell disease, nbme 
 
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| Author | 6 Posts |
nadiabarati
| | 06/25/06 - 09:26 PM  
 
   
 
|   #1 |
A four-year-old white female presents to the pediatric clinic for follow-up due to developmental delay. Her medical history reports frequent episodes of otitis media, bronchitis, and pneumonia. Physical examination reveals coarse facial features, gingival hypertrophy, joint stiffness, claw hand deformity, and generalized hypotonia. Significant motor delay is appreciated. Electron microscopy of muscle biopsy demonstrates numerous intracytoplasmic inclusions, which are membrane-bound vacuoles filled with fibrillogranular material. I-cell disease is suspected. What is the function of the deficient enzyme? A. Breakdown of dermatan sulfate and heparan sulfate B. Cleavage of disaccharides C. Cleavage of fructose D. Degradation of sphingolipids E. Metabolism of galactose F. Phosphorylation of mannose residues D? there are accumulation of mucolipids, mucopolysaccarides, glycolipids, sphingolipids...
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| mjl1717 Forum Hero

Topics: 955 Posts: 5,451
| | 06/25/06 - 10:43 PM  
 
   
 
|   #2 |
answer-f---to bring product to the lysosome instead of cytoplasm
___________________ Smell the coffee! "Is That an Osler move??"
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| robin082006 Forum Hero

Topics: 471 Posts: 5,125
| | 06/25/06 - 10:56 PM  
 
   
 
|   #3 |
F for sure
___________________ The Key to Succeed is Patience.
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| Cedrick Forum Fanatic

Topics: 320 Posts: 1,928
| | 06/25/06 - 10:57 PM  
 
   
 
|   #4 |
Sialidosis found it on e-medicine,and let me tell I am
Choice E
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| Cedrick Forum Fanatic

Topics: 320 Posts: 1,928
| | 06/25/06 - 11:00 PM  
 
   
 
|   #5 |
Choice F sorry it is late
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| leen Forum Guru
Topics: 79 Posts: 294
| | 06/26/06 - 02:03 PM  
 
   
 
|   #6 |
F...
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